NM_002693.2(POLG):c.1613A>C (p.Glu538Ala) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Dec 11, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000497705.2

Allele description [Variation Report for NM_002693.2(POLG):c.1613A>C (p.Glu538Ala)]

NM_002693.2(POLG):c.1613A>C (p.Glu538Ala)

Gene:
POLG:DNA polymerase gamma, catalytic subunit [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
15q26.1
Genomic location:
Preferred name:
NM_002693.2(POLG):c.1613A>C (p.Glu538Ala)
HGVS:
  • NC_000015.10:g.89326711T>G
  • NG_008218.2:g.13085A>C
  • NM_002693.2:c.1613A>C
  • NP_002684.1:p.Glu538Ala
  • LRG_765t1:c.1613A>C
  • LRG_765:g.13085A>C
  • LRG_765p1:p.Glu538Ala
  • NC_000015.9:g.89869942T>G
Protein change:
E538A
Links:
dbSNP: rs767216577
NCBI 1000 Genomes Browser:
rs767216577
Molecular consequence:
  • NM_002693.2:c.1613A>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000589689GeneDxcriteria provided, single submitter
Uncertain significance
(Dec 11, 2018)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000589689.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

A variant of uncertain significance has been identified in the POLG gene. The E538A variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The E538A variant is observed in 11/11574 (0.1%) alleles from individuals of Latino background undergoing testing at GeneDx (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The E538A variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved in mammals. However, in silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 17, 2019

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